Catch me if you can- Hereditary hemorrhagic telangiectasia presenting as gastrointestinal bleed!

Abstract

Background

Hereditary hemorrhagic telangiectasia (HHT) is a rare, autosomal dominant genetic disorder. It produces abnormal vasculature throughout the body, contributing to varying bleeding manifestations. Similarly, gastrointestinal involvement can result from arteriovenous malformations (AVM), which can spontaneously bleed, presenting as iron deficiency anemia.

Aim/objective

Recognizing patterns that can indicate HHT, using appropriate diagnostic criteria, and learning guideline-directed management.

Case

A 61-year-old female presenting with treatment-resistant iron deficiency anemia was evaluated with endoscopy, which revealed a duodenal AVM. The patient underwent a CT scan for lung cancer screening, revealing multiple bilateral pulmonary AVMs. This led to a suspicion of HHT. A push enteroscopy was pursued, revealing 40 bleeding AVMs.

Discussion

HHT can present with cerebral, pulmonary, gastrointestinal, and hepatic involvement with fatal complications. Diagnostic criteria and genetic testing can be utilized for the diagnosis, and further screening helps reduce mortality. Even in cases of late presentation, patients should be referred to and established with appropriate sub-specialists to monitor complications. Recognizing HHT as a potential cause of otherwise unexplained gastrointestinal bleeding is crucial for prompt diagnosis and timely intervention to prevent serious complications.